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Aliases for PSPH Gene

Aliases for PSPH Gene

  • Phosphoserine Phosphatase 2 3
  • O-Phosphoserine Phosphohydrolase 3 4
  • L-3-Phosphoserine Phosphatase 3 4
  • EC 3.1.3.3 4 63
  • PSPase 3 4
  • PSP 3 4
  • PSPHD 3

External Ids for PSPH Gene

Previous HGNC Symbols for PSPH Gene

  • PSP

Previous GeneCards Identifiers for PSPH Gene

  • GC07M055542
  • GC07M055785
  • GC07M055820
  • GC07M055853
  • GC07M055892

Summaries for PSPH Gene

Entrez Gene Summary for PSPH Gene

  • The protein encoded by this gene belongs to a subfamily of the phosphotransferases. This encoded enzyme is responsible for the third and last step in L-serine formation. It catalyzes magnesium-dependent hydrolysis of L-phosphoserine and is also involved in an exchange reaction between L-serine and L-phosphoserine. Deficiency of this protein is thought to be linked to Williams syndrome. [provided by RefSeq, Jul 2008]

GeneCards Summary for PSPH Gene

PSPH (Phosphoserine Phosphatase) is a Protein Coding gene. Diseases associated with PSPH include phosphoserine phosphatase deficiency and 3-phosphoserine phosphatase deficiency. Among its related pathways are Metabolism and Carbon metabolism. GO annotations related to this gene include calcium ion binding and magnesium ion binding.

UniProtKB/Swiss-Prot for PSPH Gene

  • Catalyzes the last step in the biosynthesis of serine from carbohydrates. The reaction mechanism proceeds via the formation of a phosphoryl-enzyme intermediates.

Gene Wiki entry for PSPH Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PSPH Gene

Genomics for PSPH Gene

Regulatory Elements for PSPH Gene

Genomic Location for PSPH Gene

Chromosome:
7
Start:
56,010,363 bp from pter
End:
56,051,604 bp from pter
Size:
41,242 bases
Orientation:
Minus strand

Genomic View for PSPH Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PSPH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PSPH Gene

Proteins for PSPH Gene

  • Protein details for PSPH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P78330-SERB_HUMAN
    Recommended name:
    Phosphoserine phosphatase
    Protein Accession:
    P78330
    Secondary Accessions:
    • B2RCR5
    • Q7Z3S5

    Protein attributes for PSPH Gene

    Size:
    225 amino acids
    Molecular mass:
    25008 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Note=Binds 1 Mg(2+) ion per subunit.;
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for PSPH Gene

neXtProt entry for PSPH Gene

Proteomics data for PSPH Gene at MOPED

Selected DME Specific Peptides for PSPH Gene

Post-translational modifications for PSPH Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

Domains & Families for PSPH Gene

Gene Families for PSPH Gene

Protein Domains for PSPH Gene

Suggested Antigen Peptide Sequences for PSPH Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P78330

UniProtKB/Swiss-Prot:

SERB_HUMAN :
  • Belongs to the SerB family.
Family:
  • Belongs to the SerB family.
genes like me logo Genes that share domains with PSPH: view

Function for PSPH Gene

Molecular function for PSPH Gene

GENATLAS Biochemistry:
phosphoserine phosphatase,catalyzing the last step of serine biosynthesis
UniProtKB/Swiss-Prot CatalyticActivity:
O-phospho-L(or D)-serine + H(2)O = L(or D)-serine + phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by calcium ions.
UniProtKB/Swiss-Prot Function:
Catalyzes the last step in the biosynthesis of serine from carbohydrates. The reaction mechanism proceeds via the formation of a phosphoryl-enzyme intermediates.

Enzyme Numbers (IUBMB) for PSPH Gene

Gene Ontology (GO) - Molecular Function for PSPH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IDA 15291819
GO:0004647 phosphoserine phosphatase activity TAS --
GO:0005509 calcium ion binding IDA 12777757
GO:0016791 phosphatase activity --
GO:0042803 protein homodimerization activity IPI 12777757
genes like me logo Genes that share ontologies with PSPH: view
genes like me logo Genes that share phenotypes with PSPH: view

Animal Model Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for PSPH Gene

Localization for PSPH Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PSPH Gene COMPARTMENTS Subcellular localization image for PSPH gene
Compartment Confidence
cytosol 4

Gene Ontology (GO) - Cellular Components for PSPH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
GO:0005829 cytosol TAS --
GO:0043005 neuron projection IEA --
genes like me logo Genes that share ontologies with PSPH: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PSPH Gene

Pathways & Interactions for PSPH Gene

genes like me logo Genes that share pathways with PSPH: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

UniProtKB/Swiss-Prot P78330-SERB_HUMAN

  • Pathway: Amino-acid biosynthesis; L-serine biosynthesis; L-serine from 3-phospho-D-glycerate: step 3/3

Gene Ontology (GO) - Biological Process for PSPH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006470 protein dephosphorylation --
GO:0006563 L-serine metabolic process IDA 15291819
GO:0006564 L-serine biosynthetic process TAS --
GO:0008152 metabolic process --
GO:0008652 cellular amino acid biosynthetic process TAS --
genes like me logo Genes that share ontologies with PSPH: view

No data available for SIGNOR curated interactions for PSPH Gene

Drugs & Compounds for PSPH Gene

(8) Drugs for PSPH Gene - From: HMDB, NovoSeek, and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Serine Approved Nutra Full agonist, Agonist Weak endogenous glycine receptor agonist 0
D-2-Amino-3-Phosphono-Propionic Acid Experimental Pharma Target 0
D-serine Experimental Pharma Agonist 0
okadaic acid Experimental Pharma 0
thymidine Experimental Pharma 0

(7) Additional Compounds for PSPH Gene - From: NovoSeek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
phosphoserine
  • 3-O-Phosphoserine
  • Dexfosfoserine
  • Fosforina
  • L-3-Phosphoserine
  • L-O-Phosphoserine
407-41-0
DL-O-Phosphoserine
  • 3-Phospho-1-serine
  • 3-Phospho-serine
  • 3-Phosphoserine
  • DL-O-Phosphorylserine
  • DL-O-Phosphoserine
17885-08-4
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with PSPH: view

Transcripts for PSPH Gene

Unigene Clusters for PSPH Gene

Phosphoserine phosphatase:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PSPH

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PSPH Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g · 1h ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d · 7e · 7f ^ 8 ^ 9 ^ 10 ^ 11a · 11b ·
SP1: - - -
SP2: - - - - - - - - -
SP3: -
SP4: -
SP5: - -
SP6: -
SP7: - - - - - - - - -
SP8:
SP9: - - - - - - - - - - -
SP10: - - - - - - - - - -
SP11: - - - - - - - - - - -
SP12: - - - - - - - - -
SP13: - - - - - - - - - -
SP14: - - - - - - - - -
SP15: - - - - - - - - -
SP16: - - - - - - - - -
SP17: - - - - - - - - - - - - - -
SP18: - - - - - - - -
SP19: - - - - -
SP20:
SP21: - - - - - - -
SP22: - - - - - - - - -
SP23: - - - - - - - - - -
SP24:
SP25: -

ExUns: 11c · 11d · 11e ^ 12a · 12b · 12c · 12d ^ 13a · 13b ^ 14 ^ 15a · 15b
SP1: -
SP2: -
SP3:
SP4: -
SP5: -
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17: -
SP18:
SP19: - - - - - - - - -
SP20:
SP21:
SP22:
SP23:
SP24:
SP25:

Relevant External Links for PSPH Gene

GeneLoc Exon Structure for
PSPH
ECgene alternative splicing isoforms for
PSPH

Expression for PSPH Gene

mRNA expression in normal human tissues for PSPH Gene

Protein differential expression in normal tissues from HIPED for PSPH Gene

This gene is overexpressed in Fetal gut (11.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PSPH Gene



SOURCE GeneReport for Unigene cluster for PSPH Gene Hs.512656

genes like me logo Genes that share expression patterns with PSPH: view

Protein tissue co-expression partners for PSPH Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PSPH Gene

Orthologs for PSPH Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PSPH Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PSPH 35
  • 90.96 (n)
  • 94.22 (a)
PSPH 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PSPH 35
  • 91.26 (n)
  • 95.11 (a)
PSPH 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Psph 35
  • 86.96 (n)
  • 93.78 (a)
Psph 16
Psph 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PSPH 35
  • 99.7 (n)
  • 99.11 (a)
PSPH 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Psph 35
  • 86.52 (n)
  • 94.67 (a)
oppossum
(Monodelphis domestica)
Mammalia PSPH 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PSPH 36
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves PSPH 35
  • 73.63 (n)
  • 80 (a)
PSPH 36
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia psph 35
  • 74.11 (n)
  • 80.8 (a)
Str.15388 35
zebrafish
(Danio rerio)
Actinopterygii psph 35
  • 64.89 (n)
  • 69.78 (a)
psph 36
  • 69 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012247 35
  • 53.86 (n)
  • 49.54 (a)
fruit fly
(Drosophila melanogaster)
Insecta aay 35
  • 55.61 (n)
  • 50.93 (a)
aay 36
  • 40 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y62E10A.13a 37
  • 50 (a)
Y62E10A.13b 37
  • 50 (a)
Y62E10A.13c 37
  • 49 (a)
Y62E10A.13 35
  • 55 (n)
  • 52.27 (a)
Y62E10A.13 36
  • 41 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SER2 36
  • 19 (a)
OneToOne
SER2 38
thale cress
(Arabidopsis thaliana)
eudicotyledons PSP 35
  • 53.72 (n)
  • 50.45 (a)
rice
(Oryza sativa)
Liliopsida Os12g0502400 35
  • 56.65 (n)
  • 50.7 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1610 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 53 (a)
OneToOne
Species with no ortholog for PSPH:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PSPH Gene

ENSEMBL:
Gene Tree for PSPH (if available)
TreeFam:
Gene Tree for PSPH (if available)

Paralogs for PSPH Gene

(1) SIMAP similar genes for PSPH Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for PSPH Gene

genes like me logo Genes that share paralogs with PSPH: view

No data available for Paralogs for PSPH Gene

Variants for PSPH Gene

Sequence variations from dbSNP and Humsavar for PSPH Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs59852874 -- 56,047,628(+) GGACA(C/T)GTTAA intron-variant
rs59890123 -- 56,029,513(+) AAAAA(-/A)GCCAC intron-variant
rs60088715 -- 56,030,220(+) TTCTC(A/C)TGCCT intron-variant
rs60352212 -- 56,039,365(+) TTAAT(C/T)AATGA intron-variant, upstream-variant-2KB
rs60462259 -- 56,015,925(+) AAGTT(A/C/T)TGGGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PSPH Gene

Variant ID Type Subtype PubMed ID
esv28230 CNV Gain+Loss 19812545
esv2734447 CNV Deletion 23290073
dgv1201e199 CNV Deletion 23128226
nsv888064 CNV Gain 21882294
esv2734448 CNV Deletion 23290073
esv1571450 CNV Insertion 17803354
dgv1106n67 CNV Gain 20364138
nsv819501 CNV Gain 19587683
dgv1107n67 CNV Gain 20364138
nsv824122 CNV Gain 20364138

Variation tolerance for PSPH Gene

Residual Variation Intolerance Score: 90.78% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.35; 26.79% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PSPH Gene

HapMap Linkage Disequilibrium report
PSPH
Human Gene Mutation Database (HGMD)
PSPH

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PSPH Gene

Disorders for PSPH Gene

MalaCards: The human disease database

(8) MalaCards diseases for PSPH Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
phosphoserine phosphatase deficiency
  • psphd
3-phosphoserine phosphatase deficiency
lacrimal gland adenocarcinoma
  • adenocarcinoma of lacrimal gland
lacrimal gland cancer
  • tumor of the lacrimal gland
lacrimal system cancer
  • neoplasm of lacrimal system
- elite association
Search PSPH in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SERB_HUMAN
  • Phosphoserine phosphatase deficiency (PSPHD) [MIM:614023]: A disorder that results in pre- and postnatal growth retardation, moderate psychomotor retardation and facial features suggestive of Williams syndrome. {ECO:0000269 PubMed:14673469}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PSPH

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PSPH
genes like me logo Genes that share disorders with PSPH: view

No data available for Genatlas for PSPH Gene

Publications for PSPH Gene

  1. Transcriptomic analysis identifies phosphatases as novel targets for adenotonsillar hypertrophy of pediatric obstructive sleep apnea. (PMID: 20093640) Khalyfa A. … Gozal D. (Am. J. Respir. Crit. Care Med. 2010) 23 67
  2. A multicentre phase II gene expression profiling study of putative relationships between tumour biomarkers and clinical response with erlotinib in non-small-cell lung cancer. (PMID: 20110292) Tan E.H. … Baselga J. (Ann. Oncol. 2010) 23 67
  3. Phosphoserine phosphatase is expressed in the neural stem cell niche and regulates neural stem and progenitor cell proliferation. (PMID: 17495110) Nakano I. … Kornblum H.I. (Stem Cells 2007) 23 67
  4. Effect of carboxylate-binding mode on metal binding/selectivity and function in proteins. (PMID: 17226948) Dudev T. … Lim C. (Acc. Chem. Res. 2007) 23 67
  5. Structure of pyrimidine 5'-nucleotidase type 1. Insight into mechanism of action and inhibition during lead poisoning. (PMID: 16672222) Bitto E. … Phillips G.N. (J. Biol. Chem. 2006) 23 67

Products for PSPH Gene

Sources for PSPH Gene

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